ClinVar Miner

List of variants reported as likely benign for muscular dystrophy-dystroglycanopathy, type A by Natera, Inc.

Included ClinVar conditions (35):

Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscle eye brain disease
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Walker-Warburg congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)	rs141918432	0.00228
NM_017739.4(POMGNT1):c.421-7C>A	rs189274856	0.00049
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	rs138330966	0.00034
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	rs140724142	0.00033
NM_017739.4(POMGNT1):c.1284+9G>C	rs565797493	0.00026
NM_017739.4(POMGNT1):c.1786-6C>T	rs202028128	0.00024
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)	rs367848204	0.00017
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)	rs141729611	0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)	rs200363064	0.00015
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	rs146237009	0.00014
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=)	rs774008151	0.00009
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)	rs187954010	0.00007
NM_017739.4(POMGNT1):c.1605-8C>T	rs535331969	0.00007
NM_017739.4(POMGNT1):c.1540-6C>T	rs770449394	0.00005
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=)	rs376138855	0.00005
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	rs752921570	0.00004
NM_017739.4(POMGNT1):c.421-9C>T	rs748122023	0.00003
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)	rs367868644	0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)	rs760933616	0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	rs774554415	0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	rs200730202	0.00001
NM_017739.4(POMGNT1):c.1605-9C>T	rs368345562	0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=)	rs777809507	0.00001
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)	rs139266745	0.00001
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=)	rs146967918
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	rs377417974

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