ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease dominant intermediate f by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_021629.3(GNB4):c.58-8dupT rs112500963
NM_021629.3(GNB4):c.917-4delT rs764075662
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380

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