ClinVar Miner

List of variants studied for perceptual disorders by Lifecell International Pvt. Ltd

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)

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