List of variants in gene combination LOC126862494, MYH8, MYHAS reported as uncertain significance for arthrogryposis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)	rs142073810	0.00068
NM_002472.3(MYH8):c.3340T>C (p.Leu1114=)	rs142711931	0.00026
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)	rs751871946	0.00024
NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)	rs138679792	0.00024
NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)	rs142137577	0.00011
NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)	rs75477725	0.00010
NM_002472.3(MYH8):c.3255-8G>A	rs367738995	0.00009
NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)	rs748982401	0.00004
NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)	rs747018022	0.00004
NM_002472.3(MYH8):c.3408G>A (p.Glu1136=)	rs1031980265	0.00001
NM_002472.3(MYH8):c.3423C>T (p.Asp1141=)	rs112065797	0.00001
NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)	rs917329592
NM_002472.3(MYH8):c.3254+8C>A	rs778017020
NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)	rs372242216

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