ClinVar Miner

List of variants studied for Auditory neuropathy

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)
NM_000260.4(MYO7A):c.2221G>A (p.Asp741Asn)
NM_000260.4(MYO7A):c.580C>T (p.Pro194Ser)
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
NM_000435.3(NOTCH3):c.709G>T (p.Val237Leu)
NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del)
NM_001145951.2(TIMM8A):c.*1727_*1729del rs1555976134
NM_001792.5(CDH2):c.1471G>C (p.Val491Leu)
NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)
NM_003722.5(TP63):c.589G>C (p.Glu197Gln)
NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)
NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)
NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)
NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)
NM_004984.4(KIF5A):c.2396A>G (p.Lys799Arg)
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)
NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu)
NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys)
NM_006158.5(NEFL):c.760del (p.Leu254fs)
NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)
NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)
NM_021830.5(TWNK):c.1217G>A (p.Arg406Gln)
NM_021830.5(TWNK):c.1388G>A (p.Arg463Gln)
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_033409.4(SLC52A3):c.704T>C (p.Leu235Pro)
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) rs145498634
NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)
NM_130837.3(OPA1):c.1498C>G (p.Arg500Gly)
NM_130837.3(OPA1):c.2803_2807del (p.Phe935fs)
NM_194248.3(OTOF):c.1539_1554del (p.His513fs)
NM_194248.3(OTOF):c.2377G>T (p.Glu793Ter)
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2688del (p.Lys896fs)
NM_194248.3(OTOF):c.2781C>A (p.Cys927Ter)
NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)
NM_194248.3(OTOF):c.4033C>T (p.Gln1345Ter)
NM_194248.3(OTOF):c.4225A>T (p.Lys1409Ter)
NM_194248.3(OTOF):c.4791del (p.Tyr1598fs)
NM_194248.3(OTOF):c.4847T>C (p.Leu1616Pro)
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5291+1G>T
NM_194248.3(OTOF):c.5330A>G (p.Asp1777Gly)
NM_194248.3(OTOF):c.5450G>A (p.Trp1817Ter)
NM_194248.3(OTOF):c.5666G>C (p.Trp1889Ser)
NM_194248.3(OTOF):c.5780C>A (p.Ala1927Asp)
NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)
NM_194248.3(OTOF):c.765+1G>C
NM_194323.3(OTOF):c.3532del (p.Val1178fs)
m.1095T>C rs267606618

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