ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset nemaline myopathy by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.990+1G>T rs372686280
NM_001271208.2(NEB):c.11077-1G>A
NM_001271208.2(NEB):c.13476+1G>A
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.18261+1G>T
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18996+2T>C
NM_001271208.2(NEB):c.20682+1G>A
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.717+1G>A
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853

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