ClinVar Miner

List of variants studied for Ocular albinism, type II

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln) rs782177944 0.00002
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs) rs2147807115
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.3598-133_3709-76del rs2147900556
NM_001256789.3(CACNA1F):c.3708+2T>C
NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs) rs2147897090
NM_001256789.3(CACNA1F):c.4260+2del rs2065655753
NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg) rs1602628260
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968

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